Variant report

Variant	rs548819476
Chromosome Location	chr12:118810027-118810028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr12:118809210-118810081	GM12878	blood:	n/a	n/a
2	ZBTB7A	chr12:118809301-118810941	ECC-1	luminal epithelium:	n/a	chr12:118809551-118809559 chr12:118809487-118809501 chr12:118809571-118809579
3	SIN3A	chr12:118809151-118811330	H1-hESC	embryonic stem cell:	n/a	chr12:118810584-118810595 chr12:118810689-118810702 chr12:118809983-118809996 chr12:118809980-118809989
4	ZBTB7A	chr12:118809804-118810241	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr12:118809116-118810104	K562	blood:	n/a	chr12:118809551-118809559 chr12:118809487-118809501 chr12:118809571-118809579
6	ZBTB7A	chr12:118809083-118811191	K562	blood:	n/a	chr12:118809551-118809559 chr12:118809487-118809501 chr12:118809571-118809579
7	ZBTB7A	chr12:118809253-118810938	ECC-1	luminal epithelium:	n/a	chr12:118809551-118809559 chr12:118809487-118809501 chr12:118809571-118809579

No.	Distal block	Cell Line	Cell type
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
3	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
4	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:

Variant related genes	Relation type
SUDS3	TF binding region
ENSG00000135090	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3413770	chr12:118808569-118812117	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118807200-118811400	Active TSS	NHDF-Ad	bronchial
2	chr12:118808000-118811400	Active TSS	NHLF	lung
3	chr12:118808400-118811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:118808400-118811200	Active TSS	Brain Anterior Caudate	brain
5	chr12:118808400-118811200	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:118808400-118811200	Active TSS	Fetal Intestine Large	intestine
7	chr12:118808400-118811600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:118808600-118811400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:118808600-118811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:118808600-118811400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:118808600-118811400	Active TSS	Brain Substantia Nigra	brain
12	chr12:118808600-118811400	Active TSS	Colonic Mucosa	Colon
13	chr12:118808600-118811600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:118808600-118811800	Active TSS	Right Atrium	heart
15	chr12:118808800-118810200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:118808800-118810200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:118808800-118810200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:118808800-118810400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:118808800-118810400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:118808800-118810600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:118808800-118811000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:118808800-118811200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:118808800-118811200	Active TSS	Fetal Intestine Small	intestine
24	chr12:118808800-118811200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:118808800-118811200	Active TSS	HMEC	breast
26	chr12:118808800-118811400	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:118808800-118811400	Active TSS	Right Ventricle	heart
28	chr12:118808800-118811400	Active TSS	GM12878-XiMat	blood
29	chr12:118809000-118810200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:118809000-118810200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr12:118809000-118811000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:118809000-118811200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:118809000-118811200	Active TSS	Brain Hippocampus Middle	brain
34	chr12:118809000-118811200	Active TSS	Gastric	stomach
35	chr12:118809000-118811200	Active TSS	Pancreas	Pancrea
36	chr12:118809000-118811200	Active TSS	HSMMtube	muscle
37	chr12:118809000-118811200	Active TSS	NH-A	brain
38	chr12:118809000-118811200	Active TSS	NHEK	skin
39	chr12:118809000-118811200	Active TSS	Osteobl	bone
40	chr12:118809000-118811400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:118809000-118811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:118809000-118811400	Active TSS	Aorta	Aorta
43	chr12:118809000-118811400	Active TSS	Brain Angular Gyrus	brain
44	chr12:118809000-118811400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:118809000-118811400	Active TSS	Colon Smooth Muscle	Colon
46	chr12:118809000-118811400	Active TSS	Lung	lung
47	chr12:118809000-118811400	Active TSS	HSMM	muscle
48	chr12:118809000-118811600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:118809000-118811600	Active TSS	Left Ventricle	heart
50	chr12:118809200-118810200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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